ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p13.2-13.1(chr9:36539229-38787480)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ALDH1B1 | - | - |
GRCh38 GRCh37 |
62 | 132 | |
ANKRD18A | - | - | - |
GRCh38 GRCh37 |
65 | 131 |
DCAF10 | - | - | - |
GRCh38 GRCh37 |
20 | 89 |
EXOSC3 | - | - |
GRCh38 GRCh37 |
239 | 329 | |
FBXO10 | - | - |
GRCh38 GRCh37 |
35 | 109 | |
FRMPD1 | - | - |
GRCh38 GRCh37 |
118 | 191 | |
GRHPR | - | - |
GRCh38 GRCh37 |
541 | 617 | |
IGFBPL1 | - | - |
GRCh38 GRCh37 |
36 | 105 | |
MELK | - | - |
GRCh38 GRCh37 |
48 | 125 | |
PAX5 | - | - |
GRCh38 GRCh37 |
153 | 258 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 21, 2019 | RCV001006238.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022